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Schizophrenia is a chronic, severe, and disabling brain disorder that affects about 1.1 percent of the U.S. population aged 18 and older (over 2 million people), according to the National Institute of Mental Health. People with schizophrenia sometimes hear voices others don’t hear or become convinced that others are plotting to harm them. These experiences can make them fearful and withdrawn, making relationships with others difficult. Symptoms usually develop in men in the late teens or early twenties and women in the twenties and thirties, but in rare cases the illness can appear in childhood.

Genetics is known to play a large role in the causation of schizophrenia, and research at CSHL has sought to clarify that role, as well as understand in detail the relationship between specific genetic anomalies and their impact on the biology of the brain.  A leader in the development of new technologies and software to scan and analyze genomes, CSHL has put these to use in finding variations in human genome structure that have significance in susceptibility to psychiatric illnesses, including schizophrenia.  Variations in gene copy number, for instance, have been correlated with substantially increased disease risk and have led to the identification of new candidate disease genes and, tentatively, to nervous system pathways in which they may be exerting their effect.  In CSHL’s Stanley Institute for Cognitive Genomics, an important effort is under way to analyze variation within a large gene called DISC 1 that has long been recognized as having a role in a subset of schizophrenia cases.

Some important research highlights:
In 2004, Dr. Michael Wigler used genome-scanning technology to demonstrate the ubiquity in humans of a type of genomic mutation called copy-number variation, or CNV.  He and colleagues undertook to identify genetic changes that have a role in the causation of neuropsychiatric disorders.

In 2008, Dr. Jonathan Sebat led a CSHL team that works with scientists at the NIMH and the University of Washington to show that CNVs are 3-4 times more prevalent in people with schizophrenia than healthy people, and that these CNVs raise individual risk 10- to 20-fold.  The team correlated some of the CNVs with pathways known to be critical in brain and nervous system development and function.

In 2009, a multi-institution team led by CSHL discovered that a CNV in a genome region called 16p11.2 – already linked to autism – substantially increases risk for schizophrenia.


Learn more about schizophrenia-related research at CSHL:

Michael Wigler, Ph.D.

W. Richard McCombie, Ph.D.

Stanley Institute for Cognitive Genomics